SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515549
rs397515549 		1.000 0.080 X 21971900 missense variant T/A;C snv 5.5E-06
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2003 2013